Linked Data
dbSNP Id:
rs560597927
gnomAD v2:
4-96458428-GC-G
gnomAD v3:
4-95537277-GC-G
gnomAD v4:
4-95537277-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.95537278del , CM000666.2:g.95537278del | GRCh38 |
| NC_000004.11:g.96458429del , CM000666.1:g.96458429del | GRCh37 |
| NC_000004.10:g.96677452del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453304.6:c.124+11456del MANE Select | ENSP00000406022.1:n.124+11456del | |
| ENST00000453304.5:c.124+11456del | ENSP00000406022.1:n.124+11456del | |
| ENST00000504962.1:c.124+11456del | ENSP00000425117.1:n.124+11456del | |
| ENST00000506749.5:c.124+11456del | ENSP00000426153.1:n.124+11456del | |
| ENST00000513796.5:c.124+11456del | ENSP00000426924.1:n.124+11456del | |
| NM_003728.3:c.124+11456del | NP_003719.3:n.124+11456del | |
| XM_005263321.2:c.124+11456del | XP_005263378.1:n.124+11456del | |
| XM_005263321.3:c.124+11456del | XP_005263378.1:n.124+11456del | |
| NM_003728.4:c.124+11456del MANE Select | NP_003719.3:n.124+11456del |